Varaico: Literature-Extracted Genetic Variants

AUH

44 papers

RefSeq Summary

This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methy...

Pfam Domains

ECH_1aa 84–339UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

AU RNA binding methylglutaconyl-CoA hydratase

HGNC Previous Names

AU RNA-binding protein/enoyl-Coenzyme A hydratase; AU RNA binding protein/enoyl-Coenzyme A hydratase; AU RNA binding protein/enoyl-CoA hydratase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001698.3

p.R87delFs

c.260delC

Surrounding Variants

1 paper

NM_001698.3

p.G88R

c.262G>C

1 paper

NM_001698.3

p.G88Splc

c.262+1G>T

1 paper

NM_001698.3

p.R87fs

c.259_260fs

1 paper

NM_001698.3

p.E76V

c.227A>T

1 paper

NM_001698.3

p.M71T

c.212T>C

1 paper

NM_001698.3

p.A62T

c.184G>A

4 papers

NM_001698.3

p.G60delFs

c.179delC

3 papers

NM_001698.3

p.G60fs

c.178_179fs

1 paper

NM_001698.3

p.Q52*

c.154C>T

1 paper

NM_001698.3

p.A45_G46Fs

c.134_136delinsCCFs

1 paper

NM_001698.3

p.A45A

c.135G>A

2 papers

NM_001698.3

p.S27fs

c.79_80fs